Symptoms of Niemann-Pick Type C Disease
Type C is the most variable form of the Niemann-Pick disease.
Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.
jaundice at (or shortly after) birth
an enlarged spleen and/or liver (hepatosplenamegaly)
Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy).
Difficulty in posturing of limbs (dystonia)
Unsteadiness of gait, clumsiness, problems in walking (ataxia)
Slurred, irregular speech (dysarthria)
Tremors accompanying movement and, in some cases, seizures
Learning difficulties and progressive intellectual decline (Cognitive dysfunction – “dementia”)
Sudden loss of muscle tone which may lead to falls (cataplexy)
Loss of the ability to speak
Loss of the ability to move facial muscles or swallow
making feeding through a stomach tube necessary